Nadav Sahar Sahar Dr. Nadav Dr. Patient Details Patient Details - - PDF document

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Nadav Sahar Sahar Dr. Nadav Dr. Patient Details Patient Details - - PDF document

Nadav Sahar Sahar Dr. Nadav Dr. Patient Details Patient Details 47 year old female Previously healthy no regular medications Previously healthy, no regular medications No family history of malignancy or IBD N f il hi t f li


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Dr.

  • Dr. Nadav

Nadav Sahar Sahar

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Patient Details Patient Details

 47 year old female  Previously healthy no regular medications

Previously healthy, no regular medications N f il hi t f li IBD

 No family history of malignancy or IBD

04/06/2013 Case presentation 2

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Complaints Complaints

 2 days of RLQ pain, cramps  No fever  Normal stool  Nausea, no vomiting  No weight loss previously

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On Admission On Admission

 Emergency room – hemodynamically stable, temp 37.4  Physical exam – soft abdomen, RLQ tenderness  Blood tests- WBC 13.8K, normal chemistry  Abdominal CT (no IV contrast d/t iodine CAVE)

04/06/2013 Case presentation 4

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Imaging Imaging – – CT Scan CT Scan

04/06/2013 Case presentation 5

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Work Work-

  • up

up

 Admission to surgery ward  IV antibiotics  Blood markers – CEA , CA 19-9, AFP - normal  Colonoscopy

04/06/2013 Case presentation 6

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Colonoscopy Colonoscopy

 Cecum examined – no mass or stricture identified. Intubation of

terminal ileum not feasible terminal ileum not feasible.

 Multiple (>40) benign appearing polyps along the colon, 2-15mm in

size, mostly sessile

 Retroflexion 1 2mm polyps to the distal rectum  Retroflexion- 1-2mm polyps to the distal rectum  Polypectomies:

yp

 Proximal colon  Sigmoid colon  Rectal polyps

04/06/2013 Case presentation 7

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Biopsies Biopsies – – Ascending Colon Ascending Colon

Mild to moderate chronic active inflammation with lymphocytic aggregates, reactive and hyperplastic mucosal h

04/06/2013 Case presentation 8

changes.

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Biopsies Biopsies – – Sigmoid Colon Sigmoid Colon

Tubular adenomas, low grade dysplasia.

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, g y p

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Differential Considerations Differential Considerations

 Discrepancy between CT findings and

colonoscopy

 Multiple hyperplastic polyps  Resolution of symptoms with antibiotics

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Keys to Diagnosis Keys to Diagnosis

PET CT G t Revision of PET-CT Gastroscopy Revision of biopsies

04/06/2013 Case presentation 11

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Further Work Further Work-

  • up

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 PET-CT – no cecal mass seen, no uptake of FDG  Gastroscopy – small sliding diaphragmatic hernia  Biopsies reviewed:

 Ascending colon- serrated adenomas  Sigmoid colon- TA LGD  Distal rectum- inflammatory

 Repeat colonoscopy

p py

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Repeat Colonoscopy Repeat Colonoscopy

 Multiple colonic polyps- snare resection of cecal polyp,

l di l l t i id l several ascending colon polyps, rectosigmoid polyps, micropolyps at 18cm

 Sigmoid and ascending colon diverticulosis  All polyps on biopsies – adenomas with LGD

04/06/2013 Case presentation 13

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Further Evaluation Further Evaluation

 Genetic counseling- suspected hereditary

polyposis syndrome

 Repeat sigmoidoscopy with indigo carmine

04/06/2013 Case presentation 15

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Summary Summary

 Referred to subtotal colectomy – multiple

adenomas in surgical specimen 1st admission di ertic litis?

 1st admission- diverticulitis?

G ti G ti l ti l ti Genetic Genetic evaluation : evaluation : MUTYH associated MUTYH associated polyposis polyposis U assoc ated U assoc ated po ypos s po ypos s (G (G396 396D mutation) D mutation)

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MUTYH Associated Polyposis MUTYH Associated Polyposis

 Recessive mode of inheritance  Base excision repair protein important in DNA repair

following oxidative damage g g

 Usually 10-500 polyps  Proximal location CRC, conventional adenomas/serrated

adenomas/hyperplastic polyps yp p p yp

 Extracolonic tumors- duodenum, ovaries, bladder, skin

04/06/2013 Case presentation 17

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MAP MAP– – Screening Recommendations Screening Recommendations

 Colonoscopy every 1-2 years from age 18,

gastroscopy from age 25-30

 Subtotal colectomy when number of polyps

exceeds possible endoscopic removal p p

 Detection and removal of hyperplastic polyps  Detection and removal of hyperplastic polyps

indicated

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Thanks Thanks

04/06/2013 Case presentation 19